A clinical and pathological description is given of a case of osteopetrosis with central retinal atrophy. In the outer retinal layers the rods and cones and their nuclei were very degenerate or absent, and in the inner retinal layers there was a marked gliosis with very few ganglion cells present. The optic nerves were also very gliosed; the nerve fibers showed a nodular type of degeneration and were very reduced in numbers. There was no narrowing of the optic foramina or bone pressure to have caused the optic nerve damage. From a review of the literature on osteopetrosis it seems that some of the cases of blindness attributed to optic atrophy could have been due to retinal degeneration. The pathological findings are similar to those produced by vitamin A deficiency in experimental animals.
Keith CG. Retinal Atrophy in Osteopetrosis. Arch Ophthalmol. 1968;79(3):234–241. doi:https://doi.org/10.1001/archopht.1968.03850040236003
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